UniProtKB/Swiss-Prot Q9NRM0: Variant p.Arg171Cys

Solute carrier family 2, facilitated glucose transporter member 9
Gene: SLC2A9
Feedback?

Variant information Variant position:

171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Arginine (R) to Cysteine (C) at position 171 (R171C, p.Arg171Cys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In RHUC2; uncertain significance; according to PubMed:21810765 the variant results in markedly reduced urate uptake, however according to PubMed:29967582 urate transport activity is not affected; no effect on Vmax; no effect on Km for urate; decreased protein expression; no effect on glucose transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs776127501 [ dbSNP | Ensembl ]

Sequence information Variant position:

171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

540 The length of the canonical sequence.
Location on the sequence:

AALLMACSLQAGAFEMLIVG R FIMGIDGGVALSVLPMYLSE The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         AALLMACSLQAGAFEMLIVGRFIMGIDGGVALSVLPMYLSE

Mouse                         AALLMACSLRAGTFEMLIVGRFIMGVDGGIALSALPMYLNE

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 540	Solute carrier family 2, facilitated glucose transporter member 9
Topological domain	162 – 171	Extracellular
Mutagenesis	157 – 157	C -> V. No effect on fructose transport. Increased urate binding affinity and decreased urate transport capacity.

Literature citations
Two novel homozygous SLC2A9 mutations cause renal hypouricemia type 2.
Dinour D.; Gray N.K.; Ganon L.; Knox A.J.; Shalev H.; Sela B.A.; Campbell S.; Sawyer L.; Shu X.; Valsamidou E.; Landau D.; Wright A.F.; Holtzman E.J.;
Nephrol. Dial. Transplant. 27:1035-1041(2012)
Cited for: VARIANTS RHUC2 MET-125 AND CYS-171; CHARACTERIZATION OF VARIANTS RHUC2 MET-125 AND CYS-171; Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.
Ruiz A.; Gautschi I.; Schild L.; Bonny O.;
Front. Physiol. 9:476-476(2018)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; CHARACTERIZATION OF VARIANTS RHUC2 ARG-75; MET-125; CYS-171; CYS-198; ARG-216; SER-333; TRP-380 AND ARG-412; CHARACTERIZATION OF VARIANTS HIS-294 AND LEU-350; MUTAGENESIS OF CYS-210;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.